Screening and prophylaxis

Screening helps the early detection of new or recurrent cancer. As both male and female carriers of genetic mutations have a high risk of tumor formation, they may wish to consider routine screening.

If a cancer is diagnosed early, the chances of loco-regional or distant metastases are very low. Complete tumor removal increases the possibility of a cure. However, intensive screening does not prevent cancer formation.

The first step is regular, routine clinical examination by your physician. The next consideration is the prophylactic removal of tissues in which the tumor may occur. For patients with the BRCA–1, 2 or 3 mutations, this includes surgical removal of the breasts (bilateral skin-sparing mastectomies) and both ovaries (salpingo-oophorectomy). Only removing the ovaries decreases the circulating levels of female hormones that cause and stimulate breast cancer, reducing recurrence by about 50%.

Although these surgical procedures are fairly aggressive, they have been demonstrated to significantly reduce the risk of cancer formation but patients need to be aware that nothing completely eliminates the risk. This explains why patients who undergo prophylactic surgery still need to attend regular postoperative follow-up appointments.

None available (the possible protective effect of hormonal contraceptives is unclear)

Male patients

Breast cancer

Screening

No uniform guidelines

Bowel cancer

Screening

>50 yrs.: colonoscopy

Prostate cancer

Screening

>40 yrs.: rectal examination combined with ultrasound & PSA level

Melanoma

Screening

Annual complete skin examination (only for BRCA-2 carriers)

The final measure to reduce the risk of cancer formation or recurrence is chemoprophylaxis, although at this point in time, there is no scientific study that has shown any benefit in carriers of the BRCA-1, 2 or 3 mutations and therefore this option is still controversial. Only woman who have already been treated for breast cancer, which is oestrogen and progesterone receptor positive, can reduce their risk of recurrence by taking Tamoxifen. It remains to be seen whether chemoprophylaxis will be beneficial for asymptomatic carriers of genetic mutations.

Choosing between these prophylactic measures is a complex process involving both medical advice and personal choice. Important concerns for patients include: the constant worry of developing cancer, the desire to have children, femininity, inter-personal relationships, sexuality and any previous family experience with the diagnosis or treatment of cancer.

Choice is also complicated by the number of medical options for which clear benefit has not yet been demonstrated: the optimal frequency and interval of screening visits is unknown and although magnetic resonance imaging (MRI) can detect breast cancer at an earlier stage, its use in carriers of genetic mutations is still unclear.

Physicians do not have any long-term data on the impact of screening or of the more invasive options: our experience with prophylactic mastectomy is relatively short. Another area that is not clear is the benefit of hormonal substitution after bilateral oophorectomy. Scientific data has shown that administrating low-dose hormone replacement is safe but the long-term effects are still unknown.

When all the options are considered, there is no one solution that fits every patient. It is important to decide on the pathway that best suits you. Of equal importance is that each and every individual feels safe and secure with their decision, when all the potential risks have been explained. This will ultimately give peace of mind. Some women find prophylactic surgery the best solution to deal with their risk of breast or ovarian cancer while others may prefer regular screening.

Exchanging experiences with fellow patients is known to be very helpful in the decision making process. Many support groups have arisen over the last few years. They offer substantial advice and comfort for high-risk patients and often have a close working relationship with health care providers.

For male patients and male carriers of genetic mutations, unfortunately, even less data is available. Here, the main emphasis remains on routine screening to aid the early diagnosis of bowel, prostate and skin cancer.